It sure is feeling like Christmas time in Montana with the piles of fluffy snow and negative temperatures! We are wrapping up the month with a few more publications from our clients, and we couldn’t be happier with how many articles were published in 2016! Congratulations to everyone who was able to get it done this year, and we are looking forward to many more in the year to come. Here are a few December highlights:

• Brian Ference of Wayne State University and colleagues published Variation in PCSK9 and HMGCR and Risk of Cardiovascular Disease and Diabetes in the New England Journal of Medicine, and found that variants in PCSK9 and HMGCR were associated with nearly identical protective effects on the risk of cardiovascular events.
• Genome-wide Diversity and Association Mapping for Capsaicinoids and Fruit Weight in Capsicum annuum L was published in Nature’s Scientific Reports by Padma Nimmakayala and Umesh Reddy of West Virginia State University and collegues. This study used a diverse collection of C. annuum to generate 66,960 SNPs using genotyping by sequencing and found that the clustering pattern of accessions was in agreement with capsaicin content.
• Marcos Silva of EMBRAPA and colleagues published Runs of homozygosity: current knowledge and applications in livestock in Animal Genetics, which presented a broader approach to ROH in animal populations, focusing on identifying and characterizing ROH and their practical implications.
• In Disease Markers, Wasun Chantratita of Ramathibodi Hospital and colleagues published Exome Sequencing Identifies Compound Heterozygous Mutations in SCN5A Associated with Congenital Complete Heart Block in the Thai Population which was aimed at investigating the possible causative variants in a Thai family with complete heart block using WES.
• Adriana Huertas-Vasquez of Cedars Sinai Medical Center and colleagues published Polymorphisms in the GNAS Gene as Predictors of Ventricular Tachyarrhythmias and Sudden Cardiac Death: Results From the DISCOVERY Trial and Oregon Sudden Unexpected Death Study in the Journal of the American Heart Association. This study aimed to discover if functionally relevant SNPs in genes encoding G‐protein subunits may influence the susceptibility to ventricular tachyarrhythmias.

See a full list of publications citing our software here. If you don’t see your publication listed, please contact us at info@goldenhelix.com and we will be happy to add it!